A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Journal of Neuromuscular Diseases

Volumn 2, Issue 3, 2015, Pages 219-227

  Malfatti, Edoardo ^a,b   Böhm, Johann ^c,d,e,f   Lacène, Emmanuelle ^a,g   Beuvin, Maud ^a,b   Guy, Brochier ^a,b,g   Romero, Norma B ^a,c,g   Laporte, Jocelyn ^c,d,e,f  

^a SORBONNE UNIVERSITÉ   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

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

^d INSERM   (France)

^e CNRS   (France)

^f UNIVERSITÉ DE STRASBOURG   (France)

^g ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Cardiomyopathy; Congenital Myopathy; MYO18B; Myosin; Nemaline Myopathy

Indexed keywords

DIGITALIS; DIURETIC AGENT; MYOSIN; MYOSIN 18B; UNCLASSIFIED DRUG;

ARTICLE; BODY DYSMORPHIC DISORDER; BRAIN HEMORRHAGE; CARDIOMYOPATHY; CASE REPORT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FAILURE TO THRIVE; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTRACARDIAC ECHOCARDIOGRAPHY; LUNG EDEMA; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYO18B GENE; NEMALINE MYOPATHY; NONSENSE MUTATION; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RNA STABILITY; SANGER SEQUENCING; SEPTIC SHOCK; STOP CODON; SUBEPENDIMAL HEMORRHAGE; TACHYCARDIA; TENDON CONTRACTURE; WESTERN BLOTTING; WHOLE EXOME SEQUENCING;

EID: 85008946523     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-150085     Document Type: Article

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