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Molecular Genetics of X-Linked Charcot-Marie-Tooth Disease

NeuroMolecular Medicine, 2006
The 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
openaire   +2 more sources

Genetic Counselling in X-Linked Eye Diseases

Acta geneticae medicae et gemellologiae, 1973
SummaryThe 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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X-linked lymphoproliferative disease: Genetic lesions and clinical consequences

Current Allergy and Asthma Reports, 2002
X-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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X‐linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease

BioEssays, 1996
AbstractX‐linked agammaglobulinemia is a heritable immunodeficiency disease caused by a differentiation abnormality, resulting in the virtual absence of B Iymphocytes and plasma cells. The affected gene encodes a cytoplasmic protein tyrosine kinase, Bruton's agammaglobulinemia tyrosine kinase, designated Btk.
P T, Mattsson, M, Vihinen, C I, Smith
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