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Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic
Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to adolescent-onset spastic paraplegia. Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease ha...
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Published in: | Journal of human genetics 2018-12, Vol.63 (12), p.1223-1229 |
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creator | Hamanaka, Kohei Miyatake, Satoko Zerem, Ayelet Lev, Dorit Blumkin, Luba Yokochi, Kenji Fujita, Atsushi Imagawa, Eri Iwama, Kazuhiro Nakashima, Mitsuko Mitsuhashi, Satomi Mizuguchi, Takeshi Takata, Atsushi Miyake, Noriko Saitsu, Hirotomo van der Knaap, Marjo S Lerman-Sagie, Tally Matsumoto, Naomichi |
description | Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to adolescent-onset spastic paraplegia. Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease has not yet been fully elucidated. In this study, we performed whole-exome sequencing on a Sepharadi Jewish and Japanese family with leukodystrophy. We identified four novel biallelic variants in IBA57 in the two families: one frameshift insertion and three missense variants. The three missense variants were predicted to be disease-causing by multiple in silico tools. The 29-year-old Sepharadi Jewish male had infantile-onset optic atrophy with clinically asymptomatic leukodystrophy involving periventricular white matter. The 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age. However, he then developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter signal on brain magnetic resonance imaging performed at 8 months of age. She had febrile convulsions at the age of 18 months and later developed epilepsy. In summary, we have identified four novel IBA57 mutations in two unrelated families. Consequently, we describe a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations. |
doi_str_mv | 10.1038/s10038-018-0516-x |
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Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease has not yet been fully elucidated. In this study, we performed whole-exome sequencing on a Sepharadi Jewish and Japanese family with leukodystrophy. We identified four novel biallelic variants in IBA57 in the two families: one frameshift insertion and three missense variants. The three missense variants were predicted to be disease-causing by multiple in silico tools. The 29-year-old Sepharadi Jewish male had infantile-onset optic atrophy with clinically asymptomatic leukodystrophy involving periventricular white matter. The 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age. However, he then developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter signal on brain magnetic resonance imaging performed at 8 months of age. She had febrile convulsions at the age of 18 months and later developed epilepsy. In summary, we have identified four novel IBA57 mutations in two unrelated families. Consequently, we describe a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/s10038-018-0516-x</identifier><identifier>PMID: 30258207</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Adult ; Age ; Atrophy ; Carrier Proteins - genetics ; Convulsions ; Epilepsy ; Female ; Fever ; Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging ; Hereditary Central Nervous System Demyelinating Diseases - genetics ; Humans ; Intellectual disabilities ; Leukodystrophy ; Magnetic resonance imaging ; Male ; Mitochondria ; Mutation ; Neuroimaging ; Optic atrophy ; Phenotype ; Phenotypes ; Spastic paraparesis ; Spastic paraplegia ; Substantia alba</subject><ispartof>Journal of human genetics, 2018-12, Vol.63 (12), p.1223-1229</ispartof><rights>Copyright Nature Publishing Group Dec 2018</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c419t-292bd87f195282bf3df0152ab090a874957d8ae292945d2293595e395e5c2cfe3</citedby><cites>FETCH-LOGICAL-c419t-292bd87f195282bf3df0152ab090a874957d8ae292945d2293595e395e5c2cfe3</cites><orcidid>0000-0002-2584-9524 ; 0000-0003-0723-0960</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30258207$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hamanaka, Kohei</creatorcontrib><creatorcontrib>Miyatake, Satoko</creatorcontrib><creatorcontrib>Zerem, Ayelet</creatorcontrib><creatorcontrib>Lev, Dorit</creatorcontrib><creatorcontrib>Blumkin, Luba</creatorcontrib><creatorcontrib>Yokochi, Kenji</creatorcontrib><creatorcontrib>Fujita, Atsushi</creatorcontrib><creatorcontrib>Imagawa, Eri</creatorcontrib><creatorcontrib>Iwama, Kazuhiro</creatorcontrib><creatorcontrib>Nakashima, Mitsuko</creatorcontrib><creatorcontrib>Mitsuhashi, Satomi</creatorcontrib><creatorcontrib>Mizuguchi, Takeshi</creatorcontrib><creatorcontrib>Takata, Atsushi</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Saitsu, Hirotomo</creatorcontrib><creatorcontrib>van der Knaap, Marjo S</creatorcontrib><creatorcontrib>Lerman-Sagie, Tally</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><title>Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to adolescent-onset spastic paraplegia. Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease has not yet been fully elucidated. In this study, we performed whole-exome sequencing on a Sepharadi Jewish and Japanese family with leukodystrophy. We identified four novel biallelic variants in IBA57 in the two families: one frameshift insertion and three missense variants. The three missense variants were predicted to be disease-causing by multiple in silico tools. The 29-year-old Sepharadi Jewish male had infantile-onset optic atrophy with clinically asymptomatic leukodystrophy involving periventricular white matter. The 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age. However, he then developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter signal on brain magnetic resonance imaging performed at 8 months of age. She had febrile convulsions at the age of 18 months and later developed epilepsy. In summary, we have identified four novel IBA57 mutations in two unrelated families. Consequently, we describe a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations.</description><subject>Adult</subject><subject>Age</subject><subject>Atrophy</subject><subject>Carrier Proteins - genetics</subject><subject>Convulsions</subject><subject>Epilepsy</subject><subject>Female</subject><subject>Fever</subject><subject>Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging</subject><subject>Hereditary Central Nervous System Demyelinating Diseases - genetics</subject><subject>Humans</subject><subject>Intellectual disabilities</subject><subject>Leukodystrophy</subject><subject>Magnetic resonance imaging</subject><subject>Male</subject><subject>Mitochondria</subject><subject>Mutation</subject><subject>Neuroimaging</subject><subject>Optic atrophy</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Spastic paraparesis</subject><subject>Spastic paraplegia</subject><subject>Substantia alba</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNpdkEFLwzAUx4Mobk4_gBcJePFSTV4a23ibY-pg4EVBvIS0TV1n29QkhfXbm7npwcPjPXi__-PxQ-ickmtKWHrjKAktIjQUp7fR5gCNacx4BAzeDn_mOAoLOkInzq1JoCGBYzRiBHgKJBmj9_mmU21RtR_YrzTuVro1fug0NiVe3E95gpveK1-Z1t1hq2vldYFr3X-aYnDemm414Fy1YdWoqsXKDU3nTRMS-Sk6KlXt9Nm-T9Drw_xl9hQtnx8Xs-kyymMqfAQCsiJNSio4pJCVrCgJ5aAyIohKk1jwpEiVDpiIeQEgGBdcs1A8h7zUbIKudnc7a7567bxsKpfrulatNr2TQCmDlLGUBvTyH7o2vW3Dd4FiScxjQSBQdEfl1jhndSk7WzXKDpISuRUvd-JlEC-34uUmZC72l_us0cVf4tc0-wZ36X2s</recordid><startdate>20181201</startdate><enddate>20181201</enddate><creator>Hamanaka, Kohei</creator><creator>Miyatake, Satoko</creator><creator>Zerem, Ayelet</creator><creator>Lev, Dorit</creator><creator>Blumkin, Luba</creator><creator>Yokochi, Kenji</creator><creator>Fujita, Atsushi</creator><creator>Imagawa, Eri</creator><creator>Iwama, Kazuhiro</creator><creator>Nakashima, Mitsuko</creator><creator>Mitsuhashi, Satomi</creator><creator>Mizuguchi, Takeshi</creator><creator>Takata, Atsushi</creator><creator>Miyake, Noriko</creator><creator>Saitsu, Hirotomo</creator><creator>van der Knaap, Marjo S</creator><creator>Lerman-Sagie, Tally</creator><creator>Matsumoto, Naomichi</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-2584-9524</orcidid><orcidid>https://orcid.org/0000-0003-0723-0960</orcidid></search><sort><creationdate>20181201</creationdate><title>Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic</title><author>Hamanaka, Kohei ; Miyatake, Satoko ; Zerem, Ayelet ; Lev, Dorit ; Blumkin, Luba ; Yokochi, Kenji ; Fujita, Atsushi ; Imagawa, Eri ; Iwama, Kazuhiro ; Nakashima, Mitsuko ; Mitsuhashi, Satomi ; Mizuguchi, Takeshi ; Takata, Atsushi ; Miyake, Noriko ; Saitsu, Hirotomo ; van der Knaap, Marjo S ; Lerman-Sagie, Tally ; Matsumoto, Naomichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-292bd87f195282bf3df0152ab090a874957d8ae292945d2293595e395e5c2cfe3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Adult</topic><topic>Age</topic><topic>Atrophy</topic><topic>Carrier Proteins - genetics</topic><topic>Convulsions</topic><topic>Epilepsy</topic><topic>Female</topic><topic>Fever</topic><topic>Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging</topic><topic>Hereditary Central Nervous System Demyelinating Diseases - genetics</topic><topic>Humans</topic><topic>Intellectual disabilities</topic><topic>Leukodystrophy</topic><topic>Magnetic resonance imaging</topic><topic>Male</topic><topic>Mitochondria</topic><topic>Mutation</topic><topic>Neuroimaging</topic><topic>Optic atrophy</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Spastic paraparesis</topic><topic>Spastic paraplegia</topic><topic>Substantia alba</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hamanaka, Kohei</creatorcontrib><creatorcontrib>Miyatake, Satoko</creatorcontrib><creatorcontrib>Zerem, Ayelet</creatorcontrib><creatorcontrib>Lev, Dorit</creatorcontrib><creatorcontrib>Blumkin, Luba</creatorcontrib><creatorcontrib>Yokochi, Kenji</creatorcontrib><creatorcontrib>Fujita, Atsushi</creatorcontrib><creatorcontrib>Imagawa, Eri</creatorcontrib><creatorcontrib>Iwama, Kazuhiro</creatorcontrib><creatorcontrib>Nakashima, Mitsuko</creatorcontrib><creatorcontrib>Mitsuhashi, Satomi</creatorcontrib><creatorcontrib>Mizuguchi, Takeshi</creatorcontrib><creatorcontrib>Takata, Atsushi</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Saitsu, Hirotomo</creatorcontrib><creatorcontrib>van der Knaap, Marjo S</creatorcontrib><creatorcontrib>Lerman-Sagie, Tally</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest_Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hamanaka, Kohei</au><au>Miyatake, Satoko</au><au>Zerem, Ayelet</au><au>Lev, Dorit</au><au>Blumkin, Luba</au><au>Yokochi, Kenji</au><au>Fujita, Atsushi</au><au>Imagawa, Eri</au><au>Iwama, Kazuhiro</au><au>Nakashima, Mitsuko</au><au>Mitsuhashi, Satomi</au><au>Mizuguchi, Takeshi</au><au>Takata, Atsushi</au><au>Miyake, Noriko</au><au>Saitsu, Hirotomo</au><au>van der Knaap, Marjo S</au><au>Lerman-Sagie, Tally</au><au>Matsumoto, Naomichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2018-12-01</date><risdate>2018</risdate><volume>63</volume><issue>12</issue><spage>1223</spage><epage>1229</epage><pages>1223-1229</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Biallelic mutations in IBA57 cause a mitochondrial disorder with a broad phenotypic spectrum that ranges from severe intellectual disability to adolescent-onset spastic paraplegia. Only 21 IBA57 mutations have been reported, therefore the phenotypic spectrum of IBA57-related mitochondrial disease has not yet been fully elucidated. In this study, we performed whole-exome sequencing on a Sepharadi Jewish and Japanese family with leukodystrophy. We identified four novel biallelic variants in IBA57 in the two families: one frameshift insertion and three missense variants. The three missense variants were predicted to be disease-causing by multiple in silico tools. The 29-year-old Sepharadi Jewish male had infantile-onset optic atrophy with clinically asymptomatic leukodystrophy involving periventricular white matter. The 19-year-old younger brother, with the same compound heterozygous IBA57 variants, had a similar clinical course until 7 years of age. However, he then developed a rapidly progressive spastic paraparesis following a febrile illness. A 7-year-old Japanese girl had developmental regression, spastic quadriplegia, and abnormal periventricular white matter signal on brain magnetic resonance imaging performed at 8 months of age. She had febrile convulsions at the age of 18 months and later developed epilepsy. In summary, we have identified four novel IBA57 mutations in two unrelated families. Consequently, we describe a patient with infantile-onset optic atrophy and asymptomatic white matter involvement, thus broadening the phenotypic spectrum of biallelic IBA57 mutations.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>30258207</pmid><doi>10.1038/s10038-018-0516-x</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-2584-9524</orcidid><orcidid>https://orcid.org/0000-0003-0723-0960</orcidid></addata></record> |
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subjects | Adult Age Atrophy Carrier Proteins - genetics Convulsions Epilepsy Female Fever Hereditary Central Nervous System Demyelinating Diseases - diagnostic imaging Hereditary Central Nervous System Demyelinating Diseases - genetics Humans Intellectual disabilities Leukodystrophy Magnetic resonance imaging Male Mitochondria Mutation Neuroimaging Optic atrophy Phenotype Phenotypes Spastic paraparesis Spastic paraplegia Substantia alba |
title | Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic |
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