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. Author manuscript; available in PMC: 2016 Dec 9.
Published in final edited form as: Neuromuscul Disord. 2011 Jun 14;21(8):533–542. doi: 10.1016/j.nmd.2011.05.002

Table 1.

Number of families/patients affected with myofibrillar myopathy.

Gene No. of affected families No. of patients
DESa 11 18
MYOTb 18 24
ZASPc   3   7
No mutations   3   4
Total 35 53
a

DES mutations identified in Spanish families: p.Arg173_Glu179del, p.Asp214_Glu245del, p.Asn366del, p.Ile367Phe, p.Leu370Pro, p.Leu392-Pro, p. Arg406Pro, p.Pro419Ser.

b

MYOT mutations identified in Spanish families: p.Ser55Phe, p.Ser60-Cys, p.Ser60Phe, p.Lys36Glu.

c

ZASP mutations identified in Spanish families: p.Ala147Thr, p.Ala165Val.