Here I present: “Bethlem Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 伯利恒肌病。(BTHLM1C)。
INTRODUCTION.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.
Bethlem myopathy type-1 (BTHLM1) is caused by a mutation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3. It is typically autosomal dominant, though uncommonly can be autosomal recessive.
Bethlem myopathy type-2 (BTHLM2) is caused by a mutation on the COL12A1 gene coding for type XII collagen. It is autosomal dominant.
There is evidence that Bethlem myopathy type-1C (BTHLM1C) is caused by heterozygous mutation in the COL6A3 gene on cytogenetic location 2q37.3 and genomic coordinates 2:237,324,018-237,414,164 . The screenshot of the COL6A3 gene 90,147 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides COL6A3 in the 2q37.3 cytogenetic location are listed BENEATH. 
| Coordinate | Symbol | Genomic Name. |
| 2:235,494,043 | AGAP1 | Arf GTPase-activating protein |
| 2:236,161,340 | GBX2 | Gastrulation brain homeobox 2 |
| 2:236,537,122 | ACKR3 | Atypical chemokine receptor 3 |
| 2:237,085,889 | COPS8 | COP9 signalosome, subunit 8 |
| 2:237,324,018 | COL6A3 | Collagen VI, alpha-3 polypeptide |
| 2:237,486,410 | MLPH | Melanophilin |
| 2:237,566,574 | PRLH | Prolactin-releasing hormone |
| 2:237,574,326 | RAB17 | Ras-associated protein |
| 2:237,627,587 | LRRFIP1 | Leucine-rich repeat in FLII-interacting protein 1 |
| 2:237,858,880 | RAMP1 | Receptor activity-modifying protein 1 |
