Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn)

Acta Neuropathologica
J M SchröderN G Laing

Abstract

Mutations in the skeletal muscle alpha-actin gene ( ACTA1) are associated by and large with three muscle diseases (1) congenital actin myopathy, (2) nemaline myopathy, and (3) intranuclear rod myopathy. More than 70 mutations have now been identified. The majority of ACTA1 mutations are dominant, a small number are recessive and most isolated cases with no previous family history have de novo dominant mutations. The present case, a boy of healthy Turkish parents, had a severe form of the disease of the latter type due to a heterozygous, presumably de novo mutation of the ACTA1 gene in exon 4 (Asp154Asn), with lack of spontaneous movements at birth requiring immediate mechanical ventilation. He died at the age of 9 weeks due to respiratory failure, secondary pneumonia, and chylothorax. The biopsy specimen of the femoral muscle was characterized by pleomorphic alterations with numerous muscle fibers showing accumulation of actin filaments, but, in addition, both nemaline bodies and intranuclear rod bodies. This was also seen in several other muscles investigated at autopsy. No developmental abnormalities of the central nervous system, and no loss of spinal motor neurons were detected despite atrophy or hypotrophy of a considerabl...Continue Reading

Citations

Jul 25, 2012·Acta Neuropathologica·Kristen J NowakNigel G Laing
Dec 14, 2011·Disease Models & Mechanisms·William R TelferJames J Dowling
Apr 26, 2011·Neuromuscular Disorders : NMD·Yoshiaki SaitoIchizo Nishino
Jun 26, 2009·Neuromuscular Disorders : NMD·Asako AraiIchizo Nishino
Dec 14, 2007·Neuromuscular Disorders : NMD·Koenraad Smets
Jun 30, 2009·Human Mutation·Nigel G LaingKristen J Nowak
Jul 1, 2009·Brain Pathology·Hans H Goebel, Nigel G Laing
Dec 26, 2006·Annals of Neurology·Kristen J NowakNigel G Laing
Apr 28, 2009·Biochimica Et Biophysica Acta·Drieke VandammeHeidi Rommelaere
May 12, 2017·Orphanet Journal of Rare Diseases·Lukas J SchnitzlerKristl G Claeys
May 28, 2020·International Journal of Molecular Sciences·George Konstantinos PapadimasConstantinos Papadopoulos
Sep 30, 2020·Neurology·Xavière LornageJohann Böhm
Jan 2, 2021·Neuromuscular Disorders : NMD·Matteo GaribaldiGiovanni Antonini
Jun 29, 2021·AJP Reports·Gloria Akuamoah-BoatengJane E Brumbaugh

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