The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy.
This study reports on a detailed clinical, electrophysiological, muscle computed tomography (CT) and laboratory investigation carried out on five families with definite linkage to chromosome 2p. Some clinical and laboratory features were common to most of the patients, such as the very high serum creatine kinase (CK) levels (mean 43.70 times the normal). The onset was most frequently in the late teens or early twenties with weakness and wasting of the pelvic girdle muscles. All patients had normal motor milestones and had not complained of any symptoms of muscle disease in early childhood. The clinical course was variable both between and within some families, but was most often slowly progressive. Some variability in the pattern of muscle involvement between the different families has also been observed.
Mahjneh
I
I
Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
Passos-Bueno
M R
MR
Zatz
M
M
Vainzof
M
M
Marconi
G
G
Nashef
L
L
Bashir
R
R
Bushby
K
K
D000293:Adolescent; D000328:Adult; D002889:Chromosomes, Human, Pair 2; D003402:Creatine Kinase / Q000097:blood; D018450:Disease Progression; D005006:Ethnicity / Q000235:genetics*; D005121:Extremities; D005260:Female; D008040:Genetic Linkage; D006616:Hip Contracture; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D012129:Respiratory Function Tests
D003402:Creatine Kinase