Congenital myopathies: clinical phenotypes and new diagnostic tools

Table 1 Muscle imaging findings in congenital myopathies

Muscle Imaging findings	Gluteus maximus	Vastus lateralis	Vastus intermedius	Vastus medialis	Rectus femoris	Sartrorius	Gracilis	Adductor longus	Adductor magnus	Semimembranosus	Semitendinosus	Biceps femoris	Tibialis anterior group	Extensor muscles of the toes	Peroneal group	Soleus	Gastrocnemius lateralis	Gastrocnemius medialis	Tibilalis posterior group
RYR1	++	+	+	+	-	++	-	+	++		+	-	-		++	++	+	-
SEPN1		+	+	+	-	++	-	++	++	+	+	++	+	++	++	+	++	++
NEB		++	+		++		++		+				++		-	++	-	+
ACTA1		+	+	+	+	++	-	+	+	+	+	+	++	++	++	++	-	-	+
MYH7		+	+	+	-	-	-	-					++		+	+	-		+
TPM2					-	-	-			+	+	+	+	+	+	+	+	+	+
DNM2		-	++	-	++	-	-	++		++	+/-	++	++		-	++		++	-
BIN1		-	-	-	-	-	-	-	-	-	-	-	++	+	++	-	-	++	-
MTM1		++	++	++	++	-	-	-	++							++		-

ISSN: 1824-7288