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X-Linked Developmental Defects of Myelination: From Mouse Mutants to Human Genetic Diseases
The Neuroscientist, 1996Molecular cloning of the major myelin-specific genes and a systematic analysis of mouse mutants have led to the identification of molecular defects in human genetic diseases that affect myelination. In the central nervous system, Pelizaeus-Merzbacher disease (PMD) and X-linked spastic paraplegia (SPG-2) are clinically distinct with respect to the ...
K. Nave, O. Boespflug-Tanguy
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Molecular Genetics of X-Linked Charcot-Marie-Tooth Disease
NeuroMolecular Medicine, 2006The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common molecularly designated form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive distal muscle atrophy and weakness, areflexia, and variable sensory abnormalities.
Kleopas A, Kleopa, Steven S, Scherer
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Genetic Counselling in X-Linked Eye Diseases
Acta geneticae medicae et gemellologiae, 1973SummaryThe fundamental principles of genetic counselling in X-linked heredity are reviewed. As many as 18 X-linked eye diseases are described and discussed. These include diseases of the eye-ball, lens, retina, choroid, optic nerve, ocular muscles, and pigmentation, as well as the ocular manifestations of systemic skin or metabolic diseases.
J. François +3 more
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Progress in Retinal and Eye Research, 2023
Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss.
Sena A. Gocuk +3 more
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Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked IRDs have a single copy of the disease-causing gene, and therefore, may exhibit variable clinical signs that vary from near normal retina to severe disease and vision loss.
Sena A. Gocuk +3 more
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X-linked lymphoproliferative disease: Genetic lesions and clinical consequences
Current Allergy and Asthma Reports, 2002X-linked lymphoproliferative disorder (XLP) was first described almost 30 years ago; remarkably, the three major manifestations of XLP, fulminant infectious mononucleosis (FIM), lymphoma, and dysgammaglobulinemia, are all described in the report of the initial kindred.
Andrew J, MacGinnitie, Raif, Geha
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