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.
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.
First Department of Internal Medicine, School of Medicine, The University of Tokushima, Japan.
H
H
Kawai
M
M
Akaike
M
M
Kunishige
T
T
Inui
K
K
Adachi
C
C
Kimura
M
M
Kawajiri
Y
Y
Nishida
I
I
Endo
S
S
Kashiwagi
H
H
Nishino
T
T
Fujiwara
S
S
Okuno
C
C
Roudaut
I
I
Richard
J S
JS
Beckmann
K
K
Miyoshi
T
T
Matsumoto
D017668:Age of Onset; D001706:Biopsy; D002154:Calpain / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D007564:Japan; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000737:chemistry / Q000473:pathology / Q000648:ultrastructure; D009124:Muscle Proteins / Q000032:analysis; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology* / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
D007527:Isoenzymes; D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain