Commonality ofTRIM32mutation in causing sarcotubular myopathy and LGMD2H-Reference-Cited by-同舟云学术

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Commonality ofTRIM32mutation in causing sarcotubular myopathy and LGMD2H

Published:2005-03-22 Issue:4 Volume:57 Page:591-595
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Schoser Benedikt G. H.,Frosk Patrick,Engel Andrew G.,Klutzny Ursula,Lochmüller Hanns,Wrogemann Klaus

Funder

German Network on Muscular Dystrophies

German Ministry of Education and Research (BMBF)

NIH (National Institute of Neurological Disorder and Stroke)

Manitoba Institute of Child Health

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference11 articles.

1. Sarcotubular myopathy. A newly recognized, benign, congenital, familial muscle disease;Jerusalem;Neurology,1973

2. Phenotypic variability in two brothers with sarcotubular myopathy;Muller-Felber;J Neurol,1999

3. Autosomal recessive muscular dystrophy in Manitoba Hutterites;Shokeir;Clin Genet,1976

4. Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci;Weiler;Am J Med Genet,1997

5. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus;Weiler;Am J Hum Genet,1998

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1. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

2. A homozygousATP2A2variant alters sarcoendoplasmic reticulum Ca²⁺-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathy;2024-05-16

3. Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy;Frontiers in Neurology;2024-01-18

4. Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?;Cells;2023-08-19

5. Limb–Girdle Muscular Dystrophies Classification and Therapies;Journal of Clinical Medicine;2023-07-19

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