| 1 | AMCD2B, MYH3, SHHS, SHHS2, TNNI2, TNNT3, TPM2 |
| A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B). | |
| Xu Y, Kang QL, Zhang ZL. | |
| Neuromuscul Disord 28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. 2018 | |
| 2 | AMCD1, SHHS2, TPM2 |
| Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. | |
| Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ. | |
| Brain 136(Pt 2):508-21. doi: 10.1093/brain/aws344. 2013 | |
| 3 | SHHS2, TPM2 |
| Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. | |
| Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. | |
| Neurology 68(10):772-5. 2007 | |