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Sarcoglycanopathies

Known as: Sarcoglycanopathies [Disease/Finding], Sarcoglycanopathy 
Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a… 
National Institutes of Health

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Alpha-SarcoglycanopathiesLimb-girdle muscular dystrophy type 2FLimb-girdle muscular dystrophy, type 2ESevere autosomal recessive muscular dystrophy of childhood - North African type (disorder)
In BloodMicrobiologicalchemically inducednursing therapy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay.
2009
2009
Cardiomyopathy in a patient with limb-girdle muscular dystrophy type 2D: Pathomorphological aspects
2005
2005
Beta-sarcoglycanopathy
Sarcoglycanopathies are relatively rare progressive muscular dystrophies with autosomal recessive inheritance; which belong to… 
Review
2004
Review
2004
Sarcoglycanopathies: An enigmatic form of muscular dystrophy - A report of 7 cases
Background: Limb girdle muscular dystrophy (LGMD) is a phenotypic expression of a heterogeneous group of diseases and… 
2002
2002
Sarcoglycanopathies: a report of 25 cases.
Twenty five patients with sarcoglycanopathies were studied prospectively. 21 of them had mild phenotype. Muscle involvement was… 
2001
2001
Hip Abduction Sign: A New Clinical Sign in Sarcoglycanopathies
A new clinical sign in sarcoglycanopathies is described. Patients with sarcoglycanopathies showed a phase of abduction of the… 
2001
2001
Hip abduction sign: a new clinical sign in sarcoglycanopathies.
Abstract A new clinical sign in sarcoglycanopathies is described. Patients with sarcoglycanopathies showed a phase of abduction… 
2001
2001
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care
Differential diagnosis of limb-girdle muscular dystrophy, including alpha-sarcoglycanopathy and Duchenne muscular dystrophy, is… 
2000
2000
A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F
Review
1999
Review
1999
Sarcoglycan complex: a muscular supporter of dystroglycan-dystrophin interplay?
In striated muscle, the cytoskeletal protein dystrophin, the protein product of the Duchenne muscular dystrophy gene, is… 
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