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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
10.1002/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1
9771675
000076168200019
H.
Kawai
author
M.
Akaike
author
M.
Kunishige
author
T.
Inui
author
K.
Adachi
author
C.
Kimura
author
M.
Kawajiri
author
Y.
Nishida
author
I.
Endo
author
S.
Kashiwagi
author
H.
Nishino
author
T.
Fujiwara
author
S.
Okuno
author
C.
Roudaut
author
I.
Richard
author
J. S.
Beckmann
author
K.
Miyoshi
author
T.
Matsumoto
author
article
casereport
1998-11
Muscle and Nerve
0148-639X
journal
21
11
1493-501
Age of Onset
Biopsy
Calpain/*genetics
Child
DNA Mutational Analysis
Exons
*Family Health
Female
Haplotypes
Humans
Isoenzymes/*genetics
Japan
Male
Microscopy, Electron
Middle Aged
Muscle Fibers/chemistry/pathology/ultrastructure
Muscle Proteins/analysis
Muscle, Skeletal/chemistry/*enzymology/pathology
Muscular Dystrophies/*genetics/metabolism/*pathology
Mutation
Pedigree
Reverse Transcriptase Polymerase Chain Reaction
Case Reports
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
60_published