RT Book, Section
A1 Harper, Peter S.
A1 Johnson, Keith
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181477397
T1 Proximal Myotonic Myopathy and the Type 2 Myotonic Dystrophy Mutation: Implications for Our Understanding of Myotonic Dystrophy
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181477397
RD 2024/04/24
AB Proximal  myotonic  myopathy  (PROMM)  received  brief  mention  in  the  eighth  edition  of  MMBID  (page  5530)  and  in  other  reviews  of  myotonic  dystrophy  (Harper,8)  as  a  recently  recognized  (1994)  progressive  myotonic  disorder  resembling  myotonic  dystrophy  but  with  distinct  clinical  features.  An  extensive  and  unusual  family  reported  with  myotonic  dystrophy  but  showing  no  chromosome  19  expansion  (Ranum  et  al,19)  was  also  noted,  and  the  possible  relationship  to  PROMM  was  raised.