Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

Neuromuscular Disorders

Volumn 23, Issue 12, 2013, Pages 992-997

  Malfatti, Edoardo ^a,b,c,d,e   Schaeffer, Ursula ^c,f,g,h,i   Chapon, Françoise ^j   Yang, Yage ^k   Eymard, Bruno ^e   Xu, Ran ^k   Laporte, Jocelyn ^c,f,g,h,i   Romero, Norma B ^a,c,d,e  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF SIENA   (Italy)

^c INSERM   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e Institut de Myologie   (France)

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

^g CNRS   (France)

^h UNIVERSITÉ DE STRASBOURG   (France)

ⁱ Chaire de Génétique Humaine   (France)

^j Normandie University   (France)

^k BGI SHENZHEN   (China)

more..

Author keywords

Cap disease; Congenital structural myopathies; Exome sequencing; Nemaline myopathies

Indexed keywords

ADULT; ARTICLE; ARTIFICIAL VENTILATION; CAP DISEASE; CASE REPORT; DNA SEQUENCE; DYSPNEA; ELECTROMYOGRAPHY; FATIGUE; FORCED VITAL CAPACITY; GENE; HEART RIGHT VENTRICLE FAILURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOPATHY; NEMALINE MYOPATHY; PRIORITY JOURNAL; RESPIRATORY FAILURE; TPM3 GENE;

CAP DISEASE; CONGENITAL STRUCTURAL MYOPATHIES; EXOME SEQUENCING; NEMALINE MYOPATHIES;

ADULT; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; MYOPATHIES, STRUCTURAL, CONGENITAL; TROPOMYOSIN;

EID: 84888420964     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.07.003     Document Type: Article

References (14)

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