一种罕见的家族性肌肉疾病。
An unusual familial muscle disorder.
作者信息
Cumming W J, Kristmundsdottir F, Mahon M
机构信息
Department of Neurology, Withington Hospital, Manchester, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1989 Feb;52(2):266-9. doi: 10.1136/jnnp.52.2.266.
Abstract
Autosomal dominant inheritance of an unusual muscle disease is reported in a family. The pathological appearance, of regularly arranged markedly atrophic muscle fibres without other evidence of disturbed innervation, are similar in each case. However, the onset of the disease, its distribution and its progression has varied within the family.
摘要
据报道，一个家族中存在一种罕见肌肉疾病的常染色体显性遗传现象。在每个病例中，病理表现均为规则排列的明显萎缩肌纤维，且无其他神经支配紊乱的证据，彼此相似。然而，该疾病在家族内的发病时间、分布情况及进展有所不同。
相似文献
1
An unusual familial muscle disorder.
J Neurol Neurosurg Psychiatry. 1989 Feb;52(2):266-9. doi: 10.1136/jnnp.52.2.266.
2
The rigid spine syndrome in two sisters.
J Neurol Neurosurg Psychiatry. 1988 Jan;51(1):131-5. doi: 10.1136/jnnp.51.1.131.
3
Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.
J Neurol Neurosurg Psychiatry. 1981 Dec;44(12):1146-52. doi: 10.1136/jnnp.44.12.1146.
4
Welander's distal myopathy: clinical, neurophysiological and muscle biopsy observations in young and middle aged adults with early symptoms.
J Neurol Neurosurg Psychiatry. 1991 Jun;54(6):494-8. doi: 10.1136/jnnp.54.6.494.
5
Mitochondrial myopathy in Marinesco-Sjögren syndrome.
J Ment Defic Res. 1991 Apr;35 ( Pt 2):154-9. doi: 10.1111/j.1365-2788.1991.tb01045.x.
6
Schwartz-Jampel syndrome with autosomal-dominant inheritance.
Eur Neurol. 1982;21(3):137-46. doi: 10.1159/000115471.
7
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.
J Neurol Neurosurg Psychiatry. 1985 Oct;48(10):1037-48. doi: 10.1136/jnnp.48.10.1037.
8
Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.
J Neurol Neurosurg Psychiatry. 1991 Jan;54(1):42-5. doi: 10.1136/jnnp.54.1.42.
9
[An autosomal recessive syndrome with myopathy and central and peripheral nervous system involvement (author's transl)].
J Neurol Sci. 1981 Jan;49(1):135-51. doi: 10.1016/0022-510x(81)90195-7.
10
Autosomal dominant motor system degeneration in a black family.
Ann Neurol. 1983 Nov;14(5):585-7. doi: 10.1002/ana.410140515.
本文引用的文献
1
Computed tomography in dystrophia myotonica.
Neuroradiology. 1982;24(1):27-31. doi: 10.1007/BF00344580.
2
Variability of histochemical and morphometric data from needle biopsy specimens of human quadriceps femoris muscle.
J Neurol Sci. 1984 Jan;63(1):85-100. doi: 10.1016/0022-510x(84)90111-4.
3
Percutaneous needle-biopsy of skeletal muscle in diagnosis and research.
Lancet. 1971 Sep 11;2(7724):593-5. doi: 10.1016/s0140-6736(71)92165-9.
4
Muscle morphometry in motor neuron disease.
Neuropathol Appl Neurobiol. 1987 Nov-Dec;13(6):405-19. doi: 10.1111/j.1365-2990.1987.tb00071.x.
Zotero 插件