Citations for
1MPD1, MYH7
Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.
Naddaf E, Waclawik AJ.
J Clin Neuromuscul Dis 16(3):164-9. doi: 10.1097/CND.0000000000000069. 2015
2MPD1, MYH7
Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.
Homayoun H, Khavandgar S, Hoover JM, Mohsen AW, Vockley J, Lacomis D, Clemens PR.
Neuromuscul Disord 21(3):219-22. Epub 2011 Jan 5. 2011
3FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
Thick filament diseases.
Oldfors A, Lamont PJ.
Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
4CMH1, MMS, MPD1, MYH7
Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation.
Overeem S, Schelhaas HJ, Blijham PJ, Grootscholten MI, ter Laak HJ, Timmermans J, van den Wijngaard A, Zwarts MJ.
Neuromuscul Disord 17(6):490-3. Epub 2007 Mar 23. 2007
5MPD1, MYH7
Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1).
Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, De Visser M, Van Der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG.
Am J Hum Genet 75(4):703-8. Epub 2004 Aug 20. 2004
6MPD1
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.
Voit T, Kutz P, Leube B, Neuen-Jacob E, Schroder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Gohlich-Ratmann G, Scoppetta C, Herrmann R.
Neuromuscul Disord 11(1):11-9. 2001
7MPD1
Autosomal dominant distal myopathy : linkage to chromosome 14.
Laing NG, et al.
Am J Hum Genet 56 : 422-427. 1995