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Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2014, Volume 85, Issue 3, pp. 345 - 353
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Muscle & Nerve, ISSN 0148-639X, 06/2018, Volume 57, Issue 6, pp. 1014 - 1017
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2019, Volume 266, Issue 7, pp. 1649 - 1654
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive... 
Neurology | Neurosciences | Medicine & Public Health | Limb-girdle muscular dystrophy | COL6A2 | Collagenopathy | Neuroradiology | Myopathy | CLINICAL NEUROLOGY | Phenotypes | Magnetic resonance imaging | Collagen | Heredity | Children | Mutation | Dystrophy | Muscular dystrophy | Original Communication
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2019, Volume 85, Issue 6, pp. 899 - 906
Objective To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause... 
DOMAIN | PROTEIN | CARDIOMYOPATHY | GENES | ALPHA-ACTININ-2 | NEUROSCIENCES | CLINICAL NEUROLOGY | ALPHA-ACTININ | Ankle | Identification methods | Muscles | Dystrophy | Mutation | Muscular dystrophy | Myopathy | Structure-function relationships
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2018, Volume 128, Issue 3, pp. 1164 - 1177
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, pp. e0186642 - e0186642
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 868 - 879
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as... 
Laing distal myopathy | SEQUENCE VARIATION | CARDIOMYOPATHY | M-BAND | MISSENSE MUTATIONS | FIBER-TYPE DISPROPORTION | HEAVY-CHAIN | MPD1 | GENE | DISEASE | GENETICS & HEREDITY | STORAGE MYOPATHY | STRIATED-MUSCLE | MYH7 | Myosin | Muscles | Boycotts | Family | Genetic aspects | Muscle proteins | Muscular dystrophy | Musculoskeletal system | Mutation | Scoliosis | Cardiomyopathy
Journal Article
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