Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
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Physical training for McArdle diseaseThe Physiological Regulation of Skeletal Muscle Fatty Acid Supply and Oxidation During Moderate-Intensity ExerciseProgress and problems in muscle glycogenosesKnock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.Neuromuscular disorders of glycogen metabolism.McArdle Disease and Exercise Physiology.McArdle disease: a unique study model in sports medicine.McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.Genes and exercise intolerance: insights from McArdle disease.The 'McArdle paradox': exercise is a good advice for the exercise intolerant.Clinical utility gene card for McArdle disease.Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
P2860
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P2860
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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name
Splice mutations preserve myop ...... phenotype in McArdle disease.
@en
Splice mutations preserve myop ...... phenotype in McArdle disease.
@nl
type
label
Splice mutations preserve myop ...... phenotype in McArdle disease.
@en
Splice mutations preserve myop ...... phenotype in McArdle disease.
@nl
prefLabel
Splice mutations preserve myop ...... phenotype in McArdle disease.
@en
Splice mutations preserve myop ...... phenotype in McArdle disease.
@nl
P2093
P2860
P356
P1433
P1476
Splice mutations preserve myop ...... phenotype in McArdle disease.
@en
P2093
John Vissing
Marianne Schwartz
Morten Duno
Ronald G Haller
P2860
P304
P356
10.1093/BRAIN/AWP065
P407
P577
2009-05-11T00:00:00Z