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Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype.

Haliloğlu G, Donkervoort S, Öztoprak Ülkühan, et al. Neurogenic arthrogryposis, hypotonia, dysmorphic features plus malformation of cortical development further expands the ARL6IP1 loss-of-function phenotype. Neuromuscular disorders : NMD. 2025;48:105312. doi:10.1016/j.nmd.2025.105312

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, et al. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018;39(3):383-388. doi:10.1002/humu.23385