An adult nemaline myopathy patient with respiratory and heart failure harboring a novel
CK, creatine kinase
Congenital
ECG, electrocardiography
Heart failure
LVOT, left ventricular outflow track
LVOT-VTI, LVOT-velocity time integral.
NM, nemaline myopathy
Nebulin (NEB)
Nemaline myopathy
Respiratory failure
TTE, transthoracic echocardiography
bpm, beats per minute
Journal
eNeurologicalSci
ISSN: 2405-6502
Titre abrégé: eNeurologicalSci
Pays: Netherlands
ID NLM: 101667077
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
14
05
2020
revised:
12
08
2020
accepted:
25
08
2020
entrez:
17
9
2020
pubmed:
18
9
2020
medline:
18
9
2020
Statut:
epublish
Résumé
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later also distal muscle weakness, mostly involving facial and respiratory muscle. Cardiac involvement has been rarely observed especially in nebulin-related nemaline myopathy and there have been only two reports about nebulin-related nemaline myopathy patients with cardiac involvement. We present here the case of a 65-year-old woman manifesting slowly progressive distal myopathy with respiratory and heart failure. She harbored two variants in the nebulin gene, c.20131C > T (p.Arg6711Trp) and c.674C > T (p.Pro225Leu), and one of them, c.674C > T, was a novel variant. In this report, we discuss the pathogenicity of the novel variant and its association with clinical phenotypes including cardiac involvement.
Identifiants
pubmed: 32939402
doi: 10.1016/j.ensci.2020.100268
pii: S2405-6502(20)30047-2
pii: 100268
pmc: PMC7479285
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100268Informations de copyright
© 2020 The Author(s).
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