Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus-Reference-Cited by-同舟云学术

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Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Published:2011-05 Issue:5 Volume:21 Page:338-344
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Hackman Peter,Sandell Satu,Sarparanta Jaakko,Luque Helena,Huovinen Sanna,Palmio Johanna,Paetau Anders,Kalimo Hannu,Mahjneh Ibrahim,Udd Bjarne

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies;Bushby;Neuromuscul Disord,1995

2. The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb -girdle muscular dystrophies, Naarden, April 12–14, 2002;Bushby;Neuromuscul Disord,2003

3. Myology;Engel,2004

4. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies;Norwood;Eur J Neurol,2007

5. Gene table of monogenic neuromuscular disorders (nuclear genome only);Kaplan;Neuromuscul Disord,2009

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1. Muscle MRI patterns for limb girdle muscle dystrophies: systematic review;Journal of Neurology;2023-05-02

2. Autosomal Dominant Limb-Girdle Muscular Dystrophies;Current Clinical Neurology;2023

3. Muscle biopsy essential diagnostic advice for pathologists;Surgical and Experimental Pathology;2021-01-14

4. Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type;European Journal of Medical Genetics;2020-02

5. The clinical and molecular spectrum of autosomal dominant limb-girdle muscular dystrophies focusing on transportinopathy;Expert Opinion on Orphan Drugs;2019-05-04

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