1,721,127 research outputs found
Limb girdle muscular dystrophy
No full textGeneClinics: Clinical Genetic Information Resource http://www.geneclinics.or
Congenital muscular dystrophy
No full textClinics: Clinical Genetic Information Resource [database on line
Familial skewed X-inactivation and X-linked mutations: unbalanced X-inactivation is a powerful mean to ascertain X-linked genes that affect cell profliferation
No full textDystrophinopathies
No full textDystrophinopathies are a group of genetic disorders mainly affecting skeletal and
cardiac muscle, caused by deficiency of the protein dystrophin at the sarcolemma of
muscle fibers. Dystrophin is encoded by the Duchenne muscular dystrophy gene (DMD),
linked to the Xp21 locus. Duchenne muscular dystrophy (DMD) is the severe form of
dystrophinopathy caused by a complete deficiency of dystrophin protein, affecting 1 in ~
4,000 newborn males and representing one of the most common lethal childhood
disorders. Becker muscular dystrophy (BMD) is the relatively milder condition caused by
the presence of a reduced and/or partially functional dystrophin protein, and its clinical
manifestations range from severe to mild. Disease manifestations are relatively rare in
DMD/BMD carriers. Dilated cardiomyopathy (DCM) and respiratory insufficiency are
the most frequent complications of dystrophinopathies. Mental retardation is found in a
small percentage of patients. To date, dystrophinopathies have no definitive cure, but
benefit from palliative pharmacological therapy with steroids, and multidisciplinary care
for prevention and management of complications. Experimental molecular and genetic
therapies are under development but their efficacy has yet to be proven
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
No full textPrivate beta- and gamma- sarcoglycan gene mutations: evidence of a founder effect in Northern Italy
No full textPattern of X-chromosome inactivation as a key determinant of the clinicopathologic phenotype of Duchenne muscular dystrophy carriers
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