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Introduction the muscular dystrophies are an inherited group of progressive myopathic disorders resulting from defects in a number of genes required for normal muscle function.
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The gene encoding androgen receptor ar alternatively known as the dihydrotestosterone receptor is located on the x chromosome it is mutant in the androgen insensitivity syndrome ais 300068 formerly known as the testicular feminization syndrome tfm and in kennedy spinal and bulbar muscular atrophy sbma 313200.
Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction sun et al 2001.
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facioscapulohumeral muscular dystrophy fshmd fshd or fshoriginally named landouzydejerine is a usually autosomal dominant inherited form of muscular dystrophy md that initially affects the skeletal muscles of the face facio scapula scapulo and upper arms fshd is the third most common genetic disease of skeletal muscle.
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Upper limb function in duchenne muscular dystrophy 13 the thumb and flexion of the index finger using the medical research council mrc scale for manual muscle testing 12.