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Unusual clinical, laboratory, and muscle histopathological findings in a family with myotonic dystrophy type 2
Author(s) -
Toth Cory,
Dunham Chris,
Suchowersky Oksana,
Parboosingh Jillian,
Brownell Keith
Publication year - 2007
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20685
Subject(s) - myotonic dystrophy , muscular dystrophy , medicine , myotonia , pathology , anatomy
Myotonic dystrophy type 2 (DM2) is a multisystem degenerative disorder with distinctive clinical and electrophysiological features. Recently, genetic confirmation has become available with the identification of the molecular defect, an expansion of a CCTG repeat located in intron 1 of the zinc finger protein 9 ( ZNF9 ) gene. We present two first‐degree relatives with an athletic clinical phenotype, pathological evidence of subsarcolemmal vacuolation, and molecular genetic confirmation of DM2. When found in the proper clinical context, athleticism and pathological subsarcolemmal vacuoles should not dissuade the clinician from the possible diagnosis of DM2. Muscle Nerve, 2006