Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Table 2 Pathology features in HMERF patients carrying titin p.Gly30150Asp and p.Cys30071Arg mutations

	Family A					Family B	Family C
TTN Mutation	p.Gly30150Asp					p.Cys30071Arg
Patient	(II:3)	(II:4)	(II:6)	(III:1)	(III:3)	Index	Index
Age at onset	29	17	22	13	14	22	36
Age at biopsy	37	33	29	14	15	25	41
Biopsied muscle	deltoid	deltoid	biceps	quadriceps	quadriceps	gastrocnemius	quadriceps
Variation of fiber size	+++	++	++	+	-	+++	+
Fibro-fatty tissue proliferation	++	+	-	-	-	+++	-
Internal nuclei	+++	+	+	-	-	++	+
Necrosis/phagocytosis	+	-	-	-	-	+	-
Interstitial inflammation	+	-	-	+	-	-	-
Cytoplasmic bodies	+	+	+	++	+	+++	++
Rimmed vacuoles	++	+	++	+	+	++	+
Uneven oxidative enzyme activity	+	+	++	-	-	++	+
Sarcoplasmic tubulofilaments	-	-	-	-	-	+	-
Intranuclear tubulofilaments	-	-	-	-	-	+	-

ISSN: 1471-2377