Fatal Neonatal Nemaline Myopathy: a Case Report

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1983 Sep 1

PMID 6311989

Citations 9

Authors

M Tsujihata

C Shimomura

T Yoshimura

A Sato

T Ogawa

Y Tsuji

S Nagataki

T Matsuo

Affiliations

Soon will be listed here.

Abstract

A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.

Citing Articles

α-tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.

Almobarak S, Hu J, Langdon K, Ang L, Campbell C Clin Case Rep. 2021; 9(3):1672-1676.

PMID: 33768912 PMC: 7981619. DOI: 10.1002/ccr3.3866.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Laitila J, McNamara E, Wingate C, Goullee H, Ross J, Taylor R Acta Neuropathol Commun. 2020; 8(1):18.

PMID: 32066503 PMC: 7027239. DOI: 10.1186/s40478-020-0893-1.

Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.

Joureau B, de Winter J, Stam K, Granzier H, Ottenheijm C Neuromuscul Disord. 2016; 27(1):83-89.

PMID: 27890461 PMC: 7392587. DOI: 10.1016/j.nmd.2016.10.004.

Nemaline myopathy in the neonate: two case reports.

Vendittelli F, Gilbert-Dussardier B Eur J Pediatr. 1996; 155(6):502-5.

PMID: 8789770 DOI: 10.1007/BF01955190.

Nemaline myopathy: two autopsy reports.

Bergmann M, Kamarampaka M, Kuchelmeister K, Klein H, Koch H Childs Nerv Syst. 1995; 11(10):610-5.

PMID: 8556730 DOI: 10.1007/BF00301002.

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