TY  - CHAP
M1  - Book, Section
TI  - Proximal Myotonic Myopathy and the Type 2 Myotonic Dystrophy Mutation: Implications for Our Understanding of Myotonic Dystrophy
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.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - ommbid.mhmedical.com/content.aspx?aid=1181477397
ER  -