Notably, pathogenic variants in BSCL2 have been associated with markedly distinct phenotypes depending on the mode of inheritance: autosomal dominant variants cause motor neuron disorders such as Silver syndrome and distal hereditary motor neuropathy [27], whereas autosomal recessive mutations lead to generalized lipodystrophy, sometimes accompanied by progressive encephalopathy [28, 29]. Here, BSCL2 is linked to distal hereditary motor neuropathy.