Inherited myopathies in the Middle East and North Africa

被引:1
|
作者
Rochdi, Khaoula [1 ,2 ]
Barakat, Abdelhamid [2 ]
Saile, Rachid [1 ]
机构
[1] Hassan II Univ, Fac Sci Ben MSik, Lab Biol & Hlth, URAC 34, Casablanca, Morocco
[2] Inst Pasteur Maroc, Lab Genom & Human Genet, Casablanca, Morocco
来源
GENE REPORTS | 2022年 / 29卷
关键词
MENA; Myopathies; Muscular dystrophies; Mutations; CONGENITAL MUSCULAR-DYSTROPHY; FUKUTIN-RELATED PROTEIN; LIMB-GIRDLE; NONSENSE MUTATION; GAMMA-SARCOGLYCAN; MENTAL-RETARDATION; PRENATAL-DIAGNOSIS; CLINICAL SPECTRUM; FOUNDER MUTATION; MIYOSHI MYOPATHY;
D O I
10.1016/j.genrep.2022.101674
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Myopathies are genetically inherited muscle degenerative disorders that mainly cause muscle weakness and a more or less marked muscle wasting (atrophy), although rare but numerous and in different forms. They are characterized by allelic, genetic, and clinical heterogeneity. Due to the high rate of consanguinity in the Middle East North Africa region, hereditary diseases are widespread and diverse, mainly linked with recessive trans-mission. To date, there is no effective cure for these neuromuscular diseases probably due to the under-diagnosis which makes any related information inaccessible, such as prevalence and diagnostic resources, which leads to poor prognosis. A state-of-the-art of these myopathies is highly recommended guiding clinical diagnosis, improving patient management, and maintaining the quality of life and optimal longevity of patients. For this, definitive genetic diagnosis is essential for the optimal exploration of these genetically heterogeneous diseases. Here, we reviewed hereditary gene alterations and the principals inherited myopathies in a recessive and X -linked pattern reported in the Middle East and North Africa region.
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页数:13
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