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12 Cards in this Set
- Front
- Back
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duchenne muscular dystrophy
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X, frameshift
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becker
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segmental deletions so truncated, less severe duchenne
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facioscapulohumeral
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AD, nondisabling, normal life expect
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limb girdle
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AR, proximal shoulder and girdle
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myotonic
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AD, myotonin protein kinase, anticipation, myotonia, cataracts, testicular atrophy
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disuse atrophy
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angular fibers
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denervation atrophy
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angular, target fibers, fiber type grouping
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central core dz
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floppy baby, loss of mito and organells in central portion of type I, muscle weakness and hypotonia but usually become ambulatory
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nemaline myopathy
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floppy baby, tangles of smallrod shaped granules in type; mild dz to severe with death
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kearns sayre syndrome
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floppy baby, mitochondrial myopathy, ragged red appearance, opthalmoplegia, heart block, cerebella ataxia
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myasthenia
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ptosis, diplopia, disphagia, dysarthria
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lambert eaton
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small cell carcinoma, manifestations like myasthenia, defect in acetylcholine release
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