Genomic screening for β-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
CG Bönnemann, MR Passos-Bueno… - Human molecular …, 1996 - academic.oup.com
Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically
heterogeneous. A subgroup of these disorders is caused by mutations in the dystrophin …
heterogeneous. A subgroup of these disorders is caused by mutations in the dystrophin …
ζ-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy
MT Wheeler, S Zarnegar… - Human molecular …, 2002 - academic.oup.com
The dystrophin glycoprotein complex (DGC) is found at the plasma membrane of muscle
cells, where it provides a link between the cytoskeleton and the extracellular matrix. A …
cells, where it provides a link between the cytoskeleton and the extracellular matrix. A …
Limb-girdle muscular dystrophies: where next after six decades from the first proposal
OA Mahmood, XM Jiang - Molecular medicine reports, 2014 - spandidos-publications.com
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of disorders, which
has led to certain investigators disputing its rationality. The mutual feature of LGMD is limb …
has led to certain investigators disputing its rationality. The mutual feature of LGMD is limb …
α-Dystroglycan is a laminin receptor involved in extracellular matrix assembly on myotubes and muscle cell viability
F Montanaro, M Lindenbaum… - The Journal of cell biology, 1999 - rupress.org
α-Dystroglycan (α-DG) is a laminin-binding protein and member of a glycoprotein complex
associated with dystrophin that has been implicated in the etiology of several muscular …
associated with dystrophin that has been implicated in the etiology of several muscular …
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
I Richard, L Brenguier, P Dincer… - American journal of …, 1997 - ncbi.nlm.nih.gov
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases
presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle …
presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle …
Seven autosomal recessive limb‐girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G
MR Passos‐Bueno, M Vainzof… - American journal of …, 1999 - Wiley Online Library
The autosomal recessive limb‐girdle muscular dystrophies (AR‐LGMDs) are a
heterogeneous group of disorders of progressive weakness of the pelvic and shoulder girdle …
heterogeneous group of disorders of progressive weakness of the pelvic and shoulder girdle …
Update on the genetics of limb girdle muscular dystrophy
S Mitsuhashi, PB Kang - Seminars in pediatric neurology, 2012 - Elsevier
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders
characterized by progressive muscle weakness with dystrophic muscle pathology caused by …
characterized by progressive muscle weakness with dystrophic muscle pathology caused by …
Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
J Chae, N Minami, Y Jin, M Nakagawa… - Neuromuscular …, 2001 - Elsevier
Mutations in the calpain 3 gene have been proven to be responsible for limb-girdle muscular
dystrophy (LGMD) type 2A. To determine the incidence and genotypes of the calpain 3 (p94) …
dystrophy (LGMD) type 2A. To determine the incidence and genotypes of the calpain 3 (p94) …
Laminin-α2 chain-deficient congenital muscular dystrophy: pathophysiology and development of treatment
M Durbeej - Current topics in membranes, 2015 - Elsevier
Laminin-211 is a major constituent of the skeletal muscle basement membrane. It stabilizes
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
skeletal muscle and influences signal transduction events from the myomatrix to the muscle …
[PDF][PDF] Functional rescue of the sarcoglycan complex in the BIO 14.6 hamster using δ-sarcoglycan gene transfer
Four types of limb-girdle muscular dystrophy (LGMD) are known to be caused by mutations
in distinct sarcoglycan genes. The BIO 14.6 hamster is a model for sarcoglycan-deficient …
in distinct sarcoglycan genes. The BIO 14.6 hamster is a model for sarcoglycan-deficient …