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A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

Brain, 2003
Item does not contain fulltextNemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness and the presence of nemaline rods. Five genes have now been associated with nemaline myopathy: alpha-tropomyosin-3 (TPM3), alpha-actin
Kathrin Saar, Martin Lammens, André Reis   +2 more
exaly   +2 more sources

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Nemaline and myotubular myopathies

Seminars in Pediatric Neurology, 2002
Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant ...
openaire   +2 more sources

Nemaline Myopathy

Journal of Neuro-Ophthalmology, 1997
Ophthalmoparesis and ptosis are extremely rare in nemaline myopathy. A 45-year-old man with a long history of bilateral ptosis and a 1-year history of diplopia is reported. Leg and arm weakness and wasting had been present since childhood, with a very slow deterioration over time.
R A, Wright, G T, Plant, D N, Landon, J A, Morgan-Hughes   +3 more
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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

Neuromuscular Disorders, 1999
The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two ...
Patrick Tan, J Briner, M R Davis
exaly   +1 more source

Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

Neuropathology, 2002
A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form).
Kiyotaka, Suwa, Masashi, Mizuguchi, Mariko Y, Momoi, Minako, Nakamura, Kunimasa, Arima, Hirofumi, Komaki, Ikuya, Nonaka   +6 more
openaire   +2 more sources

Investigations on the Inheritance of Nemaline Myopathy

Archives of Neurology, 1978
Extensive investigations on 11 patients with nemaline myopathy (six index patients, five relatives), their parents, and some healthy relatives were carried out. In one family, nemaline myopathy was inherited as an autosomal dominant trait. No linkage between the locus of nemaline myopathy and the locus of seven informative genetic markers (out of 25 ...
W F, Arts, J, Bethlem, K P, Dingemans, A W, Eriksson   +3 more
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Intranuclear nemaline rod myopathy

Muscle & Nerve, 2006
AbstractThe clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for α‐actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy ...
Vassil, Kaimaktchiev, Hans, Goebel, Nigel, Laing, Michael, Narus, Douglas, Weeks, Randal, Nixon   +5 more
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Pregnancy in a Patient With Nemaline Myopathy

Obstetrics & Gynecology, 2007
Nemaline myopathy is a rare, slowly progressive neuromuscular disorder, characterized by generalized skeletal and smooth muscle weakness and hypotonia. It is extremely rare in pregnancy. However, it may adversely affect pregnancy, and pregnancy may exacerbate the natural progress of the condition.We report a woman with nemaline myopathy diagnosed ...
Osama S, Eskandar, Seumas D, Eckford
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Recent advances in nemaline myopathy

Current Opinion in Neurology, 2013
This article reviews recent advances in the understanding of nemaline myopathy, with a focus on the genetic basis of the disorder, histology, and pathogenesis.Pathogenic mutations have been identified in eight genes and there is evidence of further genetic heterogeneity in nemaline myopathy.
Norma B, Romero, Sarah A, Sandaradura, Nigel F, Clarke   +2 more
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Nemaline rods in chorea‐acanthocytosis

Muscle & Nerve, 2005
AbstractIn chorea‐acanthocytosis, a neurological disorder associated with multisystem degeneration, amyotrophy and peripheral neuropathy are sometimes conspicuous. We describe a patient with chorea‐acanthocytosis who showed distributed nemaline rods in biopsied muscle.
Yohei, Tamura, Kazutaka, Matsui, Hiroshi, Yaguchi, Masaya, Hashimoto, Kiyoharu, Inoue   +4 more
openaire   +2 more sources