Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 10, 2014, Pages 1149-1152

  Romero, Norma B ^a,b,c,d   Xie, Ting ^b,f,g,h,i   Malfatti, Edoardo ^a,b,c,d,e   Schaeffer, Ursula ^b,f,g,h,i   Böhm, Johann ^b,f,g,h,i   Wu, Bin ^j   Xu, Fengping ^j   Boucebci, Samy ^k   Mathis, Stéphane ^k   Neau, Jean Philippe ^k   Monnier, Nicole ^l   Fardeau, Michel ^a,c   Laporte, Jocelyn ^b,f,g,h,i  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^e UNIVERSITY OF SIENA   (Italy)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^g CNRS   (France)

^h UNIVERSITÉ DE STRASBOURG   (France)

ⁱ Centre de Recherche Interdisciplinaire en Biologie   (France)

^j BGI SHENZHEN   (China)

^k POITIERS UNIVERSITY HOSPITAL   (France)

^l GRENOBLE UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACHILLES TENDON CONTRACTURE; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT ECCENTRIC CORE DISEASE; COMPUTER ASSISTED TOMOGRAPHY; ELECTRON MICROSCOPY; FEMALE; GENE; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE FATIGUE; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MYALGIA; MYH7 GENE; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SEQUENCE ANALYSIS; STERNOCLEIDOMASTOID MUSCLE; TENDON CONTRACTURE; TIBIALIS ANTERIOR MUSCLE; CENTRAL CORE DISEASE; GENETIC PREDISPOSITION; GENETICS; MUSCLE DISEASE; NEUROPATHOLOGY, MUSCLE; PATHOLOGY; PEDIGREE; RADIOGRAPHY; SLOW MUSCLE FIBER; ULTRASTRUCTURE;

CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN;

MUSCLE DISEASE; MYOPATHY; NEUROPATHOLOGY, MUSCLE;

ADULT; AGED; CARDIAC MYOSINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MUSCLE FIBERS, SLOW-TWITCH; MUTATION, MISSENSE; MYOPATHY, CENTRAL CORE; MYOSIN HEAVY CHAINS; PEDIGREE;

EID: 84908348003     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306754     Document Type: Article

References (13)

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