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Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; [5] fifteen cases were first described on 1960 by Dr. Yukio Fukuyama.
Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. [5]
Causes of lissencephaly can include viral infections of the uterus or the fetus during the first trimester, [6] or insufficient blood supply to the fetal brain early in pregnancy. There are also a number of genetic causes of lissencephaly, including mutation of the reelin gene (on chromosome 7 ), [ 7 ] as well as other genes on the X chromosome ...
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulti
Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Mutation of many different genes can be causative.
Over time, being in a constant inflammatory state can start to damage healthy cells and increase your risk for certain diseases, including autoimmune diseases, type 2 diabetes, dementia, obesity ...
What causes low testosterone? Many things can lower testosterone, including age, lack of exercise, mental and emotional stress, some medications, and type 2 diabetes. Food and overall diet can ...
Long QT syndrome, the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias (e.g., torsade de pointes), syncope, and sudden cardiac death.