Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma

Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We presen...

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Bibliographic Details
Published in:Genes 2024-08, Vol.15 (9), p.1144
Main Authors: Taneva, Ani, Gresham, David, Guergueltcheva, Velina, Chamova, Teodora, Bojinova, Veneta, Gospodinova, Mariana, Katzarova, Maria, Petkov, Radoslav, Voit, Thomas, Aneva, Lidia, Asenov, Ognyan, Georgieva, Bilyana, Mihaylova, Violeta, Bichev, Stoyan, Todorov, Tihomir, Todorova, Albena, Kalaydjieva, Luba, Tournev, Ivailo
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Bulgaria
Child
Child, Preschool
Children
Computed tomography
Creatine
Creatine kinase
Diagnosis
Female
Genetic analysis
Genetic aspects
Genetic testing
Genetic variability
Genotype & phenotype
Health aspects
Humans
Hypertrophy
Magnetic resonance imaging
Male
Middle Aged
Muscle, Skeletal - metabolism
Muscle, Skeletal - pathology
Muscles
Muscular Dystrophies, Limb-Girdle - genetics
Muscular Dystrophies, Limb-Girdle - pathology
Muscular dystrophy
Mutation
Pedigree
Pelvis
Phenotype
Physiological aspects
Protein expression
Proteins
Roma - genetics
Romanies
Sarcoglycans - genetics
Tomography
Young Adult
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Summary:Sarcoglycanopathies are among the most frequent and severe forms of autosomal recessive forms of limb-girdle muscular dystrophies (LGMDs) with childhood onset. Four subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, which are caused, respectively, by mutations in the , SGCB, and genes. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 57 patients, belonging to 35 pedigrees. Molecular genetic analysis showed that all 57 patients were homozygous for the C283Y variant. The muscles of the pelvic girdle and the trunk were affected early and were more severely affected, followed by the shoulder girdle. Macroglossia, hypertrophy of the calves, scapular winging and lumbar hyperlordosis were common in the ambulatory phase. A great intra and interfamilial variability in the clinical presentation of LGMD 2C/R5 was observed, despite having the same underlying molecular defect. Females demonstrated a relatively milder clinical course compared to males. Mean creatine phosphokinase (CK) CK levels were 20 times above normal values. Muscle computer tomography (CT) CT or MRIs showed earlier and more severe involvement of the flexor proximal limb muscles in comparison to extensor muscles.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes15091144