A 34 year old woman presented initially with recurrent episodes of proximal limb-girdle weakness during the first trimester of pregnancies at 14, 23, and 26 years of age. At age 27 painful weakness recurred and became persistent and progressive. Physical exam disclosed progressive proximal arm and leg weakness, neck flexor weakness, left winged scapula, and paraspinal muscle atrophy. Needle EMG was consistent with underlying myopathy with marked muscle fiber irritability, and rare, higher frequency myotonic discharges in proximal arm and thoracic paraspinal muscles. Initial CK was 4415 IU/L. Left rectus femoris biopsy showed chronic and active myopathy with significant interstitial fibrosis and several rimmed vacuoles with few containing congophilic myofibrillar amyloid. On whole exome sequencing biallelic variants were identified in HMGCR, one missense and one splice site, both novel: c.1378 A>G (p.Lys460Glu); c.1723-1 G>T.