TPM2

Arthrogryposis, distal, type 2B (DA2B)

Summary DA2B is thought to be the most common of the distal arthrogryposis disorders. Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. If distal arthrogryposis type 1 (DA1) is not associated with other abnormalities, other forms of DA such

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Congenital Myopathies

Recommended panel testing at BREDA GENETICS for this condition (EXOME PANEL): Nemaline myopathy and other congenital myopathies (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3) Making a genetic diagnosis of congenital myopathies is not easy, but it’s necessary to assess the recurrence risk. Nance JR et al

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