Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
S Noguchi, EM McNally, KB Othmane, Y Hagiwara… - Science, 1995 - science.org
… subunit genes can result in muscle weakness, we propose the term "sarcoglycanopathy"
as a collective name for these muscular dystrophies (29). Mutations in dystrophin produce a …
as a collective name for these muscular dystrophies (29). Mutations in dystrophin produce a …
Abnormalities in α-, β-and γ-sarcoglycan in patients with limb-girdle muscular dystrophy
CA Sewry, J Taylor, LVB Anderson, E Ozawa… - Neuromuscular …, 1996 - Elsevier
… In contrast to patients with Duchenne muscular dystrophy (DMD), our patients with … Mutations
in the dystrophin associated protein ysarcoglycan in chromosome 13 muscular dystrophy…
in the dystrophin associated protein ysarcoglycan in chromosome 13 muscular dystrophy…
Dystrophin-associated proteins and the muscular dystrophies
RH Brown Jr, DPhil, MD - Annual review of medicine, 1997 - annualreviews.org
… childhood autosomal recessive muscular dystrophy)] was genetically linked to a locus on
chromosome 13 (30) that encodes the protein γ-sarcoglycan. This locus is mutated in many (…
chromosome 13 (30) that encodes the protein γ-sarcoglycan. This locus is mutated in many (…
Mutations that disrupt the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
EM McNally, D Duggan… - Human molecular …, 1996 - academic.oup.com
… in the genes encoding several of the dystrophin-associated proteins have been … recessive
muscular dystrophy to the milder limb-girdle muscular … in chromosome 13 muscular dystrophy …
muscular dystrophy to the milder limb-girdle muscular … in chromosome 13 muscular dystrophy …
Myoclonus dystonia and muscular dystrophy: ɛ‐sarcoglycan is part of the dystrophin‐associated protein complex in brain
AJ Waite, FA Carlisle, YM Chan… - Movement Disorders, 2016 - Wiley Online Library
… a muscular dystrophy-associated β-sarcoglycan mutant into … Our failure to detect γ-sarcoglycan
when the ɛ-sarcoglycan-2… the low-peptide coverage of γ-sarcoglycan when the pan ɛ-…
when the ɛ-sarcoglycan-2… the low-peptide coverage of γ-sarcoglycan when the pan ɛ-…
Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
D Jung, F Leturcq, Y Sunada, F Duclos, FMS Tomé… - FEBS letters, 1996 - Elsevier
… mutations in the dystrophin gene cause the complete absence of dystrophin and a drastic
reduction of the dystrophin-associated pro… in skeletal muscle from one chromosome 13 linked …
reduction of the dystrophin-associated pro… in skeletal muscle from one chromosome 13 linked …
Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans
R Betto, D Biral, D Sandoná - The Italian Journal of Neurological Sciences, 1999 - Springer
… The human γsarcoglycan gene maps to chromosome 13q12, … in muscular dystrophies and
whether a muscular dystrophy … syntrophin family of dystrophin-associated proteins. J Neurosci …
whether a muscular dystrophy … syntrophin family of dystrophin-associated proteins. J Neurosci …
Severe γ-sarcoglycanopathy caused by a novel missense mutation and a large deletion
KJ Nowak, P Walsh, RL Jacob, RD Johnsen… - Neuromuscular …, 2000 - Elsevier
… severe limb-girdle muscular dystrophy. The elder sister … the dystrophin–associated protein
(DAP) complex in the muscle cell … one chromosome 13 highlighted by the γ-sarcoglycan probe …
(DAP) complex in the muscle cell … one chromosome 13 highlighted by the γ-sarcoglycan probe …
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
P Melacini, M Fanin, DJ Duggan… - Muscle & Nerve …, 1999 - Wiley Online Library
… and cardiac muscle, patients with these mutations might be … studied 13 patients with -, -,
-sarcoglycan gene mutations by … Deficiency of a dystrophin-associated glycoprotein (adhalin) …
-sarcoglycan gene mutations by … Deficiency of a dystrophin-associated glycoprotein (adhalin) …
Progressive muscular dystrophy in α-sarcoglycan–deficient mice
… , and 21B5 against γ-sarcoglycan were generated in … muscular dystrophy, we evaluated
structural and functional characteristics of skeletal and cardiac muscle in Sgca-null mutant …
structural and functional characteristics of skeletal and cardiac muscle in Sgca-null mutant …