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Qué (quién) es X-linked Charcot-Marie-Tooth disease - definición
X-linked Charcot-Marie-Tooth disease
CHARCOT-MARIE-TOOTH DISEASE THAT HAS MATERIAL BASIS IN X-LINKED INHERITANCE OF A POINT MUTATION IN THE CONNEXIN-32 GENE
Draft:X-linked Charcot-Marie-Tooth disease; X-linked Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease is a group of genetic disorders and a type of Charcot-Marie-Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.
Charcot–Marie–Tooth disease classifications
Classifications of Charcot–Marie–Tooth disease refers to the types and subtypes of Charcot–Marie–Tooth disease (CMT), a genetically and clinically heterogeneous group of inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body. CMT is a result of genetic mutations in a number of genes.
X-linked lymphoproliferative disease
LYMPHOPROLIFERATIVE DISORDER
Duncan's disease; X-linked lymphoproliferative syndrome; Purtilo syndrome; XLP (hematology)
X-linked lymphoproliferative disease (also known as Duncan disease or Purtilo syndrome and abbreviated as XLP) is a lymphoproliferative disorder, usually caused by SH2DIA gene mutations in males. XLP-positive individuals experience immune system deficiencies that render them unable to effectively respond to the Epstein-Barr virus (EBV), a common virus in humans that typically induces mild symptoms or infectious mononucleosis (IM) in patients.
