Patent ID: 8349557

Claim:
A method comprising a) Preparing an isolated DNA preparation from a sample taken from an individual; b) Amplifying a DNA fragment of interest from the DNA preparation with a pair of isolated DNA oligonucleotide primers selected from the group consisting of SEQ ID NO: 14, SEQ ID NO: 15, SEQ ID NO: 16, SEQ ID NO: 17, SEQ ID NO: 18 and SEQ ID NO: 19; c) determining from the amplified DNA fragment whether the individual has the following mutations in the VMA21 gene or locus: c.54-27A>T; c.54-27A>C; and c.163+4A>G; and d) diagnosing the individual as having or being at risk of developing X-linked myopathy with excessive autophagy (XMEA) and/or diagnosing the individual as being a carrier of at least one mutation if the individual is determined to have at least one of the mutations.