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12 Cards in this Set

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