Nemaline myopathy caused by mutation in the tropomyosin 3 gene

MedGen UID:: 373089
•Concept ID:: C1836448
•: Disease or Syndrome

Synonym:

Nemaline myopathy 1

Recent clinical studies

Diagnosis

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C
Hum Mutat 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. PMID: 16917880

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Prognosis

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

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Clinical prediction guides

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Rod distribution and muscle fiber type modification in the progression of nemaline myopathy.

Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M
J Child Neurol 2003 Mar;18(3):235-40. doi: 10.1177/08830738030180031501. PMID: 12731651

Nebulin expression in patients with nemaline myopathy.

Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M
Neuromuscul Disord 2001 Mar;11(2):154-62. doi: 10.1016/s0960-8966(00)00177-2. PMID: 11257471

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Nemaline myopathy caused by mutation in the tropomyosin 3 gene

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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