1. 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
- Author
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Toshio Matsumoto, Yoshihiko Nishida, Hiroshi Nishino, Katsuhito Adachi, Shiro Okuno, Masashi Akaike, Isabelle Richard, Makoto Kunishige, Tsutomu Fujiwara, Toshio Inui, Setsuko Kashiwagi, Chiyomi Kimura, Kazuo Miyoshi, Carinne Roudaut, Hisaomi Kawai, Jacques S. Beckmann, Itsuro Endo, and Masakazu Kawajiri
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Physiology ,Biopsy ,DNA Mutational Analysis ,Muscle Fibers, Skeletal ,Muscle Proteins ,Biology ,Gene mutation ,medicine.disease_cause ,Muscular Dystrophies ,Frameshift mutation ,Cellular and Molecular Neuroscience ,Japan ,Physiology (medical) ,medicine ,Humans ,Age of Onset ,Muscular dystrophy ,Child ,Muscle, Skeletal ,Family Health ,Mutation ,Calpain ,Reverse Transcriptase Polymerase Chain Reaction ,Exons ,Anatomy ,Middle Aged ,medicine.disease ,Muscle atrophy ,Pedigree ,Isoenzymes ,Microscopy, Electron ,Haplotypes ,biology.protein ,Female ,Neurology (clinical) ,medicine.symptom ,Age of onset ,Limb-girdle muscular dystrophy - Abstract
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.
- Published
- 1998
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