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Literature DB >> 153383

Myotonia in centronuclear myopathy.

A Gil-Peralta, E Rafel, J Bautista, R Alberca.

Abstract

Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.

Entities: Disease

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Year: 1978 PMID： 153383 PMCID： PMC493238 DOI： 10.1136/jnnp.41.12.1102

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

21 in total

1. X-linked myotubular myopathy with fatal neonatal asphyxia.

Authors: P G Barth; G K Van Wijngaarden; J Bethlem
Journal: Neurology Date: 1975-06 Impact factor: 9.910

2. Familial centronuclear myopathy: a clinical and pathological study.

Authors: J H Sher; A B Rimalovski; T J Athanassiades; S M Aronson
Journal: Neurology Date: 1967-08 Impact factor: 9.910

3. A case of type 1 muscle fibre hypotrophy and internal nuclei.

Authors: T Inokuchi; H Umezaki; T Santa
Journal: J Neurol Neurosurg Psychiatry Date: 1975-05 Impact factor: 10.154

4. [Centromuclear myopathy with late clinical manifestations. Clinical, histological and ultrastructural study of a new case].

Authors: M Goulon; M Fardeau; L Got; P Babinet; E Manko
Journal: Rev Neurol (Paris) Date: 1976-04 Impact factor: 2.607

5. Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies.

Authors: C Coërs; N Telerman-Toppet; J M Gérard; H Szliwowski; J Bethlem; G K van Wijngaarden
Journal: Neurology Date: 1976-11 Impact factor: 9.910

6. Centronuclear myopathy in old age.

Authors: D G Harriman; M A Haleem
Journal: J Pathol Date: 1972-11 Impact factor: 7.996

7. Distinct subtypes of type I fibers of human skeletal muscle.

Authors: V Askanas; W K Engel
Journal: Neurology Date: 1975-09 Impact factor: 9.910

8. Selective and nonselective susceptibility of muscle fiber types. A new approach to human neuromuscular diseases.

Authors: W K Engel
Journal: Arch Neurol Date: 1970-02

9. Myotubular myopathy associated with cataract and electrical myotonia.

Authors: C H Hawkes; M J Absolon
Journal: J Neurol Neurosurg Psychiatry Date: 1975-08 Impact factor: 10.154

10. Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases.

Authors: H B Sarnat; S W Silbert
Journal: Arch Neurol Date: 1976-07

3 in total

1. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Authors: Macarena Cabrera-Serrano; Fabiola Mavillard; Valerie Biancalana; Eloy Rivas; Bharti Morar; Aurelio Hernández-Laín; Montse Olive; Nuria Muelas; Eduardo Khan; Alejandra Carvajal; Pablo Quiroga; Jordi Diaz-Manera; Mark Davis; Rainiero Ávila; Cristina Domínguez; Norma Beatriz Romero; Juan J Vílchez; David Comas; Nigel G Laing; Jocelyn Laporte; Luba Kalaydjieva; Carmen Paradas
Journal: Neurology Date: 2018-06-27 Impact factor: 9.910

2. Adult onset centronuclear myopathy with peripheral nerve involvement.

Authors: P Mouren; Y Poinso; J F Pellissier; N Moriyama; A Mouren
Journal: J Neurol Date: 1982 Impact factor: 4.849

3. Myotonia in DNM2-related centronuclear myopathy.

Authors: Ron Dabby; Menachem Sadeh; Ronit Gilad; Karin Jurkat-Rott; Frank Lehmann-Horn; Esther Leshinsky-Silver
Journal: J Neural Transm (Vienna) Date: 2013-12-24 Impact factor: 3.575

3 in total