Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

• Published in: Muscle & nerve 1998-11, Vol.21 (11), p.1493-1501
• Main Authors: Kawai, Hisaomi, Akaike, Masashi, Kunishige, Makoto, Inui, Toshio, Adachi, Katsuhito, Kimura, Chiyomi, Kawajiri, Masakazu, Nishida, Yoshihiko, Endo, Itsuro, Kashiwagi, Setsuko, Nishino, Hiroshi, Fujiwara, Tsutomu, Okuno, Shiro, Roudaut, Carinne, Richard, Isabelle, Beckmann, Jacques S., Miyoshi, Kazuo, Matsumoto, Toshio
• Format: Article
• Language: English
• Subjects: Age of Onset; Biological and medical sciences; Biopsy; Calpain - genetics; calpain 3 gene; Child; clinical feature; Diseases of striated muscles. Neuromuscular diseases; DNA Mutational Analysis; Exons; Family Health; Female; Haplotypes; Humans; Isoenzymes - genetics; Japan; limb-girdle muscular dystrophy type 2A; Male; Medical sciences; Microscopy, Electron; Middle Aged; Muscle Fibers, Skeletal - chemistry; Muscle Fibers, Skeletal - pathology; Muscle Fibers, Skeletal - ultrastructure; Muscle Proteins - analysis; Muscle, Skeletal - chemistry; Muscle, Skeletal - enzymology; Muscle, Skeletal - pathology; Muscular Dystrophies - genetics; Muscular Dystrophies - metabolism; Muscular Dystrophies - pathology; Mutation; Neurology; pathology; Pedigree; protease; Reverse Transcriptase Polymerase Chain Reaction
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1

We report on the clinical, pathological, and genetic features of 7 patients with limb‐girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca2+‐binding domain. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1493–1501, 1998