Misdiagnosis with peripheral neuropathy can occur due to the common and sometimes exclusive distal involvement at the lower extremities, coexistence with peripheral neuropathy [16], and the common presence of abnormal spontaneous activity in rimmed vacuolar myopathies including myotilinopathies and other myofibrillar myopathies such as GNE and PLIN4 [13] as well as Pompe disease [17] that can be misinterpreted for active denervation [2]. Here, PLIN4 is linked to peripheral neuropathy.