Nondystrophinopathic muscular dystrophies including myotonic dystrophy.
The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.
Nonaka
I
I
Department of Ultrastructural Research, National Center of Neurology and Psychiatry, Tokyo, Japan.
Kobayashi
O
O
Osari
S
S
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007797:Laminin / Q000235:genetics; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D014960:X Chromosome
D016189:Dystrophin; D007797:Laminin