Congenital Myopathies

Titin Myopathy

Titin is the largest protein in the body encoded by TTN gene. Titin plays keys developmental, mechanical, structural and regulatory roles in skeletal and cardiac muscles. Titin-related myopathies are a heterogeneous group of inherited muscle disorders that vary in terms of mode of inheritance (dominant versus recessive), age at onset, pattern of muscle
involvement, severity, and rate of progression.

Some categories of myopathies that can be caused by the mutation in TTN gene include:

• Myofibrillar Myopathy 9 (also known as Hereditary Myopathy with Early Respiratory Failure (HMERF) (
• Centronuclear myopathy (CNM) related to TTN
• MultiMinicore Myopathy (MmD) related to TTN
• Congenital Myopathy with fiber type disproportion

A titin-related myopathy means any muscle disease caused by a change in the titin (TTN) gene. A titin-related muscular dystrophy would refer to a muscle disease caused by a change in the titin (TTN) gene when there is evidence of worsening muscle breakdown with replacement by scar or fatty tissue. Some categories of muscular dystrophy that are due to titin mutations include:

• Limb Girdle Muscular Dystrophy R10 – titin related (LGMDR10) also known as LGMD2J
• Tibial Muscular Dystrophy also known as Udd Distal Myopathy or tibial muscular dystrophy (UDM-TMD)

For more information go to titinmyopathy.com