Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
about
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12Human adhalin is alternatively spliced and the gene is located on chromosome 17q21Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutationAdhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiencyLinkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north AfricaReport of ENMC workshop on the limb-girdle muscular dystrophies.Autosomal recessive disorders among Arabs: an overview from Kuwait.Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.Making sense of the limb-girdle muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.Plasma membrane cytoskeleton of muscle: a fine structural analysis.Sarcoglycans in muscular dystrophy.The man behind the syndrome: Guillaume Duchenne.Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity.Dystrophin analysis in the diagnosis of muscular dystrophyDystrophin protects the sarcolemma from stresses developed during muscle contractionFounder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Designing heart performance by gene transfer.Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies.Dystrophin-associated proteins and the muscular dystrophies: a glossary.Dystrophin in the nervous system.Childhood neuromuscular disorders: a decade's experience in Saudi Arabia.A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.Muscular dystrophy with separate clinical phenotypes in a large family.On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers
P2860
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P2860
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
description
1983 nî lūn-bûn
@nan
1983年の論文
@ja
1983年学术文章
@wuu
1983年学术文章
@zh-cn
1983年学术文章
@zh-hans
1983年学术文章
@zh-my
1983年学术文章
@zh-sg
1983年學術文章
@yue
1983年學術文章
@zh
1983年學術文章
@zh-hant
name
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
@en
type
label
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
@en
prefLabel
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
@en
P2093
P356
P1433
P1476
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.
@en
P2093
P304
P356
10.1002/MUS.880060702
P577
1983-09-01T00:00:00Z